Familial juvenile polyposis syndrome with a de novo germline missense variant in BMPR1A gene: a case report

BACKGROUND: Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of colorectal cancer. Germline mutations in two genes, SMAD4 and BMPR1A, have been...

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Detalles Bibliográficos
Autores principales: Liu, Qing, Liu, Mengling, Liu, Tianshu, Yu, Yiyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545562/
https://www.ncbi.nlm.nih.gov/pubmed/33032550
http://dx.doi.org/10.1186/s12881-020-01135-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545562/
https://www.ncbi.nlm.nih.gov/pubmed/33032550
http://dx.doi.org/10.1186/s12881-020-01135-6

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